[Lichen sclerosus et atrophicus of the vulva]

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Human genome variation·2019

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Journal of inherited metabolic disease·2012

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

Journal of medical genetics·2010

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

Journal of medical genetics·2010

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Clinical genetics·2010

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Journal of inherited metabolic disease·2009

[Suture lateralisation of the vocal fold in a patient with bilateral vocal cord paralysis].

Ugeskrift for laeger·2026

[Nontoxigenic Vibrio cholerae O1 bacteraemia and cholangitis in a returning traveller from Sri Lanka].

Ugeskrift for laeger·2026

[Transcranial magnetic stimulation in non-psychiatric disorders].

Ugeskrift for laeger·2026

[Coronary artery calcium and cardiovascular prevention].

Ugeskrift for laeger·2026

[Advanced therapy medicinal products].

Ugeskrift for laeger·2026

[Giant panniculectomy].

Ugeskrift for laeger·2026

Fibromyalgia and Central Sensitization in Rheumatoid Arthritis, Psoriatic Arthritis, and Spondyloarthritis: A Systematic Review.

Cureus·2026

Isolated Central Nervous System Tuberculosis-Associated Immune Reconstitution Inflammatory Syndrome-Case Report and Literature Review.

Respirology case reports·2026

When Pneumonia Is Not Pneumonia: T-cell Acute Lymphoblastic Leukemia Presenting With Mediastinal Mass, Airway Compression, and Pericardial Effusion in a 4-Year-Old.

Cureus·2026

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[Lichen sclerosus et atrophicus of the vulva]

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A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

[Suture lateralisation of the vocal fold in a patient with bilateral vocal cord paralysis].

[Nontoxigenic Vibrio cholerae O1 bacteraemia and cholangitis in a returning traveller from Sri Lanka].

[Transcranial magnetic stimulation in non-psychiatric disorders].

[Coronary artery calcium and cardiovascular prevention].

[Advanced therapy medicinal products].

[Giant panniculectomy].

Fibromyalgia and Central Sensitization in Rheumatoid Arthritis, Psoriatic Arthritis, and Spondyloarthritis: A Systematic Review.

Isolated Central Nervous System Tuberculosis-Associated Immune Reconstitution Inflammatory Syndrome-Case Report and Literature Review.

When Pneumonia Is Not Pneumonia: T-cell Acute Lymphoblastic Leukemia Presenting With Mediastinal Mass, Airway Compression, and Pericardial Effusion in a 4-Year-Old.

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